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Article

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

American journal of medical genetics - 3 Jul 1995

Lindsay E A, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati R S, Shprintzen R J, Baldini A

Abstract excerpt

Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital heart disease. Due to the variability of phenotype, the evaluation of the incidence of deletions has been hampered by uncertainty of diagnosis. In this study, 54 patients were diagnosed with VCFS by a single group of clinicians using...

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Identifiers

PMID: 7677167
DOI: 10.1002/ajmg.1320570339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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